Understanding the Mechanism of Muscular Dystrophy - Essay Example

? Muscular Dystrophy Introduction According to Emery (21), muscular dystrophy is a family of muscle diseases that degenerate the musculoskeletal system and limit locomotion/mobility. The disease is punctuated by deficiencies in muscle protein, degeneration of muscle tissue and cells, and progressive weakness of the musculoskeletal system. In the 1870s, descriptions of people (particularly boys) who grew weaker over time, lost mobility, and died young became increasingly prominent in the medical field. During that period, these descriptions were documented in medical journals. In the next decade, Guillaume Duchenne, a French neurologist, provided a comprehensive evaluation of 13 boys with the most prevalent and severe form of the disease (Parker & Philip 14). This form of muscular dystrophy now bears his name: Duchenne Muscular Dystrophy (DMD). Within a short time it became apparent that the disease had multiple forms. The major forms are congenital, Becker, distal, myotonic, oculopharyngeal, limb-girdle, Emery-Dreyfuss, and facioscapulohumeral (Parker &Philip 16). According to the Office of Rare Diseases (ORD) _a department of the National Institutes of Health (NIH) _ muscular dystrophy is a “rare disease”. This means that it (and its forms) is prevalent in less than 200,000 Americans. According to the ORD, about 1 in 544,000 Americans are diagnosed with the disease annually (Bushby 22). In 2007, MD STARnet conducted a study in 4 US states on the mortality rates of muscular dystrophy. The study recorded the percentage of people with the disease who were still alive by the end of the year. The data is as shown below: i) 100% aged 5 to 9. ii) 99% aged 10 to14. iii) 85% aged 15 to 19. iv) 58% aged 20 to 24. This data therefore shows that there is a great variance in mortality rates across different age groups, with the highest being that of people aged between 20 and 24 years. Other findings also revealed that the disease is more prevalent in males than females (Emery 28). Physiological Basis for Disease Muscular dystrophy is genetic. Although it has different forms, it is generally caused by a defect in the gene responsible for the production of dystrophin, a protein that gives muscles their strength and shape (Bushby 35). In the absence of this protein, muscles degenerate, break down and a person progressively becomes weaker. This is the physiological basis for the disease. Clinical Signs/Symptoms Symptoms include the following: slow or disabled intellectual development (only noted in some forms of the disease); progressive muscle weakness; delayed development of muscle motor skills; limited locomotion and mobility (difficulty in using some muscle groups, walking, etc); drooling; ptosis; shrinking of muscle size; respiratory problems; contractures of joints; arrhythmias; poor balance; cardiomyopathy; scoliosis; muscle spasms; and atrophy (Emery 43). Geographic, Racial/Ethnic Distribution Muscular dystrophy has not been shown to be prevalent in specific racial/ethnic groups, and neither has it been shown to be prevalent in certain geographic regions. It occurs randomly and is therefore randomly distributed (Parker & Philip 51). Diagnostic Technique(s) Diagnosis can be done in a number of ways, and is usually based on the results of the following tests and examinations: a) Muscle biopsy This test involves a thorough examination of the patient’s muscle to detect any form of (progressive) muscle wasting, which is usually the main symptom of muscular dystrophy. It is performed extensively so as to rule out any other possible causes. b) Creatine phosphokinase (CpK3) test This test is used to measure the amount of CPK in the blood. CPK, an enzyme, is usually found in the skeletal muscle, brain, and heart. In this test, blood is drawn from a vein and then tested. When the CPK is very high, it is a sign that there has been stress or injury to muscle tissue, brain, or heart. This test is mainly done to determine if the patient is carrier of the gene for muscular dystrophy. c) Electromyography (EMG) This is a test used to evaluate muscle health as well as the nerves responsible for controlling the muscles (motor neurons). If a patient’s muscles appear wasted (and therefore unhealthy) then there is a huge possibility that the patient is suffering from muscular dystrophy. d) Electrocardiography (ECG). This test records and monitors the electrical activity of the heart. It is used to assess whether or not there is any damage to the heart. If the test is positive then there is a possibility of the patient suffering from muscular dystrophy. e) DNA analysis This involves an examination of the patient’s DNA in order to determine whether the genes of muscle wasting have been carried forward to him/her through his lineage or family history. f) Physical examination. This can reveal physical evidence of muscle wasting. For instance, symptoms like limited mobility, poor balance, and general body weakness are major pointers to muscular dystrophy. g) An analysis of the patient’s medical history, with specific emphasis on the family history. This is related to DNA analysis because it deals with family history. The only difference is that it is rarely done medically, and involves just asking questions about the patient’s family history. For instance, if anyone in his/her lineage or family has ever displayed such symptoms or any other related symptoms. All these tests are meant to confirm whether or not there is evidence of muscle wasting. In summary, a positive diagnosis would be confirmed by conclusive evidence of progressive muscle wasting. Treatment Options/ Regimens Muscular dystrophy (regardless of the form) has no cure (Emery 57). It can only be managed in order to minimize its effects on one’s life. According to Bushby (60), management includes respiratory therapy, physical therapy, corrective orthopedic surgery, speech therapy, and the provision of support using orthopedic appliances (orthoses). Drug therapy includes anticonvulsants to minimize seizures and muscle activity, antibiotics to combat respiratory infections, and corticosteroids to stifle muscle degeneration (Parker & Philip 65). Occupational therapy, assistive technology (may be required, for example, in the treatment of respiratory muscle degeneration and the fitting of pacemakers in case of cardiac problems), dietary management, physiotherapy, rehabilitation using supplements, and oral care are also fundamental in the management of the disease in a patient’s life span (Parker & Philip 67). Social Implications & Preventive measures Muscular dystrophy has a major social and economic impact on the lives of afflicted individuals and their families. First of all, limited mobility means the victims cannot socialize much with other people, and even if they can, it is limited to a certain degree. This can push them to develop anger and resentment towards other people, thus interfering with their social growth and development (Bushby 71). Although it is rare, stigma and resentment by some members of the society can have major negative impacts on people afflicted with the disease and their families. The disease also significantly reduces the victims’ productivity and ability to work since their mobility is greatly affected (Bushby 72). Between 2001 and 2004, MarketScan Commercial Claims and Encounters Database collected data which showed that: in 2004, the annual average cost of medical care for people who were privately insured and had any form of muscular dystrophy was $18,930. This cost ranges from $13,464 between 5 and 9 years, to $32,541 between 15 and 19 years (Emery 77). Since it has already been mentioned that the disease is genetic, preventing it is impossible. Early diagnosis and detection make its management quite easy. Works Cited Bushby, Katharine M. Muscular dystrophy methods and protocols. Totowa, N.J.: Humana, 2001. Print. Emery, Alan E. H. Muscular dystrophy. 3rd ed. Oxford: Oxford University Press, 2008. Print. Parker, James N., and Philip M. Parker. The 2002 official patient's sourcebook on muscular dystrophy. San Diego, Calif.: Icon Health Publications, 2002. 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